Featured Video: Spinal Muscular Atrophy Awareness


Spinal Muscular Atrophy Awareness: Newborn Screening · Symptom PDFs: 0-6 Months · 6-12 Months · CureSMA.org · Donate · Muscular Dystrophy Association · Donate · RIP: The Shatesky Brothers

Currently, most parents learn their child has a neuromuscular disease after symptoms have already begun to appear. Following the onset of symptoms a number of different tests may be performed, usually over a period of time, as doctors work to determine a diagnosis. This process often is referred to as the “diagnostic odyssey” and, as the term implies, can be incredibly time-consuming and emotionally draining for families during a child’s first few months and/or years of life.

Newborn screening ensures that every child begins receiving the right treatment and is connected with expert clinical care as soon as possible to drive the best possible health outcomes. Such testing can also provide families with a genetic diagnosis — information that often is required to determine whether their child is eligible to participate in promising clinical trials.

Because newborn screening identifies disorders early on, before symptoms appear, it eliminates the diagnostic odyssey in connection with the disorders it covers.

Currently, Pompe disease and spinal muscular atrophy (SMA) are the only neuromuscular diseases that are included on the national list of diseases recommended for screening (the Recommended Uniform Screening Panel, or RUSP). However, although included on the RUSP, screening for these diseases has not been implemented in every state.

Spinal muscular atrophy (SMA), for example, is the leading genetic cause of death in infants. While only a few years ago there were no disease-modifying therapies for SMA, today there are multiple lifesaving treatment options on the market.

New Jersey began newborn screening for Spinal Muscular Atrophy (SMA) in early 2022.

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